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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


The information on this page was automatically extracted from online scientific databases.

What is the official name of the ZBTB16 gene?

The official name of this gene is “zinc finger and BTB domain containing 16.”

ZBTB16 is the gene's official symbol. The ZBTB16 gene is also known by other names, listed below.

What is the normal function of the ZBTB16 gene?

From NCBI Gene (

This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

From UniProt (ZBT16_HUMAN) (

Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

How are changes in the ZBTB16 gene related to health conditions?

Genetics Home Reference provides information about acute promyelocytic leukemia, which is associated with changes in the ZBTB16 gene.
UniProt (ZBT16_HUMAN) ( provides the following information about the ZBTB16 gene's known or predicted involvement in human disease.

Skeletal defects, genital hypoplasia, and mental retardation (SGYMR): A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. The disease is caused by mutations affecting the gene represented in this entry.

A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.

NCBI Gene ( lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ZBTB16 gene.
  • Skeletal defects, genital hypoplasia, and mental retardation (, a catalog designed for genetics professionals and researchers, provides the following information about the ZBTB16 gene and its association with health conditions.

Where is the ZBTB16 gene located?

Cytogenetic Location: 11q23.1

Molecular Location on chromosome 11: base pairs 114,059,579 to 114,250,676

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The ZBTB16 gene is located on the long (q) arm of chromosome 11 at position 23.1.

The ZBTB16 gene is located on the long (q) arm of chromosome 11 at position 23.1.

More precisely, the ZBTB16 gene is located from base pair 114,059,579 to base pair 114,250,676 on chromosome 11.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about ZBTB16?

You and your healthcare professional may find the following resources about ZBTB16 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ZBTB16 gene or gene products?

  • PLZF
  • ZNF145

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding ZBTB16?

acute ; carboxyl ; cell ; cell cycle ; craniofacial ; degradation ; gene ; histone ; hypoplasia ; leukemia ; ligase ; locus ; mental retardation ; microcephaly ; myeloid ; nucleus ; progression ; protein ; rearrangement ; short stature ; stature ; transcription ; transcription factor ; translocation ; ubiquitin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Published: November 30, 2015